Men M - Search Results

1

Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.

Men M, Wu J, Zhao Y, Xing X, Jiang F, Zheng R, Li JD. Men M, et al. Fertil Steril. 2020 Jan;113(1):158-166. doi: 10.1016/j.fertnstert.2019.08.069. Epub 2019 Nov 17. Fertil Steril. 2020. PMID: 31748124 Free article.

2

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y. Wang H, et al. Among authors: men m. J Hum Genet. 2015 Mar;60(3):119-126. doi: 10.1038/jhg.2014.114. Epub 2015 Jan 15. J Hum Genet. 2015. PMID: 25589040 Free PMC article.

3

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.

Li W, Sun J, Ling J, Li J, He C, Liu Y, Chen H, Men M, Niu Z, Deng Y, Li M, Li T, Wen J, Sang S, Li H, Wan Z, Richard EM, Chapagain P, Yan D, Liu XZ, Mei L, Feng Y. Li W, et al. Among authors: men m. Hum Genet. 2018 Apr;137(4):329-342. doi: 10.1007/s00439-018-1885-0. Epub 2018 Apr 30. Hum Genet. 2018. PMID: 29713870

4

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Men M, Li W, Chen H, Wu J, Feng Y, Guo H, Li JD. Men M, et al. Laryngoscope. 2020 Feb;130(2):526-532. doi: 10.1002/lary.27941. Epub 2019 Mar 25. Laryngoscope. 2020. PMID: 30908667

5

Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome.

Dai W, Wu J, Zhao Y, Jiang F, Zheng R, Chen DN, Men M, Li JD. Dai W, et al. Among authors: men m. Gene. 2019 Jun 20;702:99-106. doi: 10.1016/j.gene.2019.03.039. Epub 2019 Mar 23. Gene. 2019. PMID: 30914325

6

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J. Li T, et al. Among authors: men m. Gene. 2019 Jul 1;704:113-120. doi: 10.1016/j.gene.2019.04.008. Epub 2019 Apr 8. Gene. 2019. PMID: 30974196 Review.

7

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.

Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M. Li JD, et al. Among authors: men m. J Clin Endocrinol Metab. 2020 May 1;105(5):dgz182. doi: 10.1210/clinem/dgz182. J Clin Endocrinol Metab. 2020. PMID: 31689711

8

Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.

Dai W, Li JD, Zhao Y, Wu J, Jiang F, Chen DN, Zheng R, Men M. Dai W, et al. Among authors: men m. Clin Genet. 2020 May;97(5):696-703. doi: 10.1111/cge.13723. Epub 2020 Feb 21. Clin Genet. 2020. PMID: 32060892

9

Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.

Men M, Wang X, Wu J, Zeng W, Jiang F, Zheng R, Li JD. Men M, et al. J Med Genet. 2021 Jan;58(1):66-72. doi: 10.1136/jmedgenet-2019-106786. Epub 2020 May 10. J Med Genet. 2021. PMID: 32389901

10

Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.

Hou Q, Wu J, Zhao Y, Wang X, Jiang F, Chen DN, Zheng R, Men M, Li JD. Hou Q, et al. Among authors: men m. Eur J Endocrinol. 2020 Sep;183(3):245-254. doi: 10.1530/EJE-19-1018. Eur J Endocrinol. 2020. PMID: 32520725

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